ClinVar Miner

List of variants in gene COQ8A reported as uncertain significance for Autosomal recessive cerebellar ataxia

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Total variants: 41
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HGVS dbSNP
NM_020247.4(COQ8A):c.-137C>A rs557786445
NM_020247.5(COQ8A):c.*150C>T rs755137919
NM_020247.5(COQ8A):c.*184G>C rs548257684
NM_020247.5(COQ8A):c.*22C>T rs374941896
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*349G>A rs113041399
NM_020247.5(COQ8A):c.*425G>T rs552968994
NM_020247.5(COQ8A):c.*570T>C rs778729725
NM_020247.5(COQ8A):c.*612C>T rs747804729
NM_020247.5(COQ8A):c.*613G>A rs537646948
NM_020247.5(COQ8A):c.*631C>G rs886046073
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*727C>T rs16846762
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.-113A>G rs886046063
NM_020247.5(COQ8A):c.-75C>T rs886046064
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1399-13G>A rs73087649
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527

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